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rs200487396

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200487396(A;A)
Make rs200487396(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position75131984
GeneCOL12A1
is asnp
is mentioned by
dbSNPrs200487396
ebirs200487396
HLIrs200487396
Exacrs200487396
Varsomers200487396
Maprs200487396
PheGenIrs200487396
hapmaprs200487396
1000 genomesrs200487396
hgdprs200487396
ensemblrs200487396
gopubmedrs200487396
geneviewrs200487396
scholarrs200487396
googlers200487396
pharmgkbrs200487396
gwascentralrs200487396
openSNPrs200487396
23andMers200487396
23andMe allrs200487396
SNP Nexus

SNPshotrs200487396
SNPdbers200487396
MSV3drs200487396
GWAS Ctlgrs200487396
Max Magnitude0
ClinVar
Risk rs200487396(A;A)
Alt rs200487396(A;A)
Reference rs200487396(G;G)
Significance Pathogenic
Disease Bethlem myopathy 2
Variation info
Gene COL12A1
CLNDBN Bethlem myopathy 2
Reversed 0
HGVS NC_000006.11:g.75841700G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000186501.2,